Variant: rs762236241 

    present in Gene: GALK1;ITGB4
    present in Chromosome: 17
    Position on Chromosome: 75757312
    Alleles of this Variant: T/C

rs762236241 in GALK1;ITGB4 gene and Adult junctional epidermolysis bullosa (disorder) PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

rs762236241 in GALK1;ITGB4 gene and Epidermolysis bullosa with pyloric atresia PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

rs762236241 in GALK1;ITGB4 gene and Weber-Cockayne Syndrome PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.